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Unique roles of rare variants in the genetics of complex diseases in humans

Genome-wide association studies have identified >10,000 genetic variants associated with various phenotypes and diseases. Although the majority are common variants, rare variants with >0.1% of minor allele frequency have been investigated by imputation and using disease-specific custom SNP arr...

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Detalles Bibliográficos
Autores principales: Momozawa, Yukihide, Mizukami, Keijiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Singapore 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7728599/
https://www.ncbi.nlm.nih.gov/pubmed/32948841
http://dx.doi.org/10.1038/s10038-020-00845-2